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Gene: Agt MGI:87963

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
angiotensinogen
Synonyms:
Aogen,  Serpina8,  angiotensin precursor

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Agt mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Agt by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertension, Essential
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure OMIM:145500
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension OMIM:267430

The table below shows human diseases predicted to be associated to Agt by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Plasma Fibronectin Deficiency
Reduced circulating fibronectin level OMIM:614101
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Hyperu... OMIM:613092
Nephrotic Syndrome, Type 6
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... OMIM:614196
Muscle Cramps, Familial
Elevated circulating creatine kinase concentration OMIM:158400
Cramps, Familial Adolescent
Elevated circulating creatine kinase concentration OMIM:218050
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Interstitial Nephritis, Karyomegalic
Renal tubular cyst, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic k... OMIM:614817
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyponatremia, Hyperkalemia, Hyperaldosteronism, Increased circulating renin level, Hypotension OMIM:620125
Pentosuria
Abnormal urine carbohydrate level, Abnormal circulating carbohydrate concentration, Abnormality o... ORPHA:2843
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... OMIM:620056
Corticosterone Methyloxidase Type Ii Deficiency
Hyponatremia, Orthostatic hypotension, Increased circulating corticosterone level, Renal salt was... OMIM:610600
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Abnormality of the urinary system, Hyp... OMIM:103900
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... OMIM:256100
Renal Hypoplasia, Bilateral
Hyponatremia, Failure to thrive, Proteinuria, Small for gestational age, Short stature, Chronic k... ORPHA:97362
Nephronophthisis 18
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Tubulointerstitial nephri... OMIM:615862
Nephrotic Syndrome, Type 21
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... OMIM:618594
Hypocalcemia, Autosomal Dominant 1
Short stature, Decreased circulating parathyroid hormone level, Hypercalciuria, Nephrolithiasis, ... OMIM:601198
Coenzyme Q10 Deficiency, Primary, 6
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... OMIM:614650
Nephrotic Syndrome, Type 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... OMIM:610725
Nephrotic Syndrome, Type 4
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:256370
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I... ORPHA:556037
Corticosterone Methyloxidase Type I Deficiency
Hyponatremia, Renal salt wasting, Hyperkalemia, Increased circulating renin level, Hypotension, D... OMIM:203400
Hypercalcemia, Infantile, 1
Failure to thrive, Polyuria, Decreased circulating parathyroid hormone level, Hypercalcemia, Neph... OMIM:143880
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Nephrotic Syndrome, Type 11
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Minimal change glomeruloneph... OMIM:616730
Nephrotic Syndrome, Type 12
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... OMIM:616892
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Increased circulating renin level, Renal salt wasting OMIM:619406
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Hyperkalemia, Stage 5 chronic kidney disease, ... OMIM:602088
Lcat Deficiency
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... ORPHA:650
Congenital Megacalycosis
Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne... ORPHA:93109
Liddle Syndrome 1
Renal insufficiency, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease... OMIM:177200
Hypercalcemia, Infantile, 2
Failure to thrive, Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcin... OMIM:616963
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency OMIM:249660
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... ORPHA:567548
Gitelman Syndrome
Prolonged QT interval, Polydipsia, Salt craving, Ataxia, Polyuria, Renal magnesium wasting, Hypom... OMIM:263800
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... OMIM:617610
Oligomeganephronia
Renal insufficiency, Proteinuria, Small for gestational age, Unilateral renal agenesis, Abnormal ... ORPHA:2260
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Hyperkalemia, Abnormal circulating corticosterone level, I... ORPHA:556030
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyponatremia, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldosteronism, Increased c... OMIM:177735
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Enuresis, Tubulointer... OMIM:603860
Nephronophthisis 3
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... OMIM:604387
Fanconi Renotubular Syndrome 2
Renal insufficiency, Proteinuria, Short stature, Generalized aminoaciduria, Hypercalciuria, Hypop... OMIM:613388
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... ORPHA:85450
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... ORPHA:730
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1
Renal insufficiency, Gout, Hyperuricemia, Renal tubular atrophy, Nephropathy, Nephritis, Decrease... OMIM:162000
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Nephropathy, Severe short stature, Elevated circulating creatinine concentration, Decreased glome... OMIM:242530
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Abnormal circulating aldosterone, Reduced blood urea nitrogen, Hypernatriuria, Elev... OMIM:300539
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Increased serum prostaglandin E2, Hypokalemia, Proximal tubulopathy, Increased circulating renin ... OMIM:241150
Renal Hypoplasia
Renal insufficiency, Urethral valve, Proteinuria, Small for gestational age, Unilateral renal age... ORPHA:93101
Nephrotic Syndrome, Type 8
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... OMIM:615244
Nephronophthisis 4
Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t... OMIM:606966
Senior-Loken Syndrome 9
Stage 5 chronic kidney disease, Obesity, Tubulointerstitial nephritis, Hypogonadism, Nephronophth... OMIM:616629
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... OMIM:613090
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Gout, Hypertension, Polycystic kidney dyspla... OMIM:618061
Senior-Loken Syndrome 1
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... OMIM:266900
Liddle Syndrome 2
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:618114
Liddle Syndrome 3
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:618126
Genetic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Periton... ORPHA:656
Birk-Landau-Perez Syndrome
Stage 3 chronic kidney disease, Renal insufficiency, Failure to thrive in infancy, Hyperkalemia, ... OMIM:617595
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... OMIM:602522
Glycogen Storage Disease Ia
Hepatomegaly, Proteinuria, Short stature, Pancreatitis, Hyperlipidemia, Nephrolithiasis, Gout, Gr... OMIM:232200
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Galloway-Mowat Syndrome 7
Diffuse mesangial sclerosis, Proteinuria, Ventricular septal defect, Minimal change glomeruloneph... OMIM:618348
Alport Syndrome
Mesangial hypercellularity, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 deposition, Thi... ORPHA:63
Nephrotic Syndrome, Type 1
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Hyp... OMIM:256300
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Aminoaciduria, Glyco... OMIM:618913
Hereditary Renal Hypouricemia
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... ORPHA:94088
Apparent Mineralocorticoid Excess
Renal insufficiency, Left ventricular hypertrophy, Abnormal urine sodium concentration, Nephrocal... ORPHA:320
Immunodeficiency, Common Variable, 6
Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi... OMIM:613496
Nephronophthisis-Like Nephropathy 2
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... OMIM:619468
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... OMIM:615954
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Renal insufficiency, Elevated circulating creatine kinase concentration, Elevated circulating acy... ORPHA:228302
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 ... ORPHA:93598
Senior-Loken Syndrome 4
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis OMIM:606996
Orthostatic Hypotension 2
Orthostatic hypotension, Decreased glomerular filtration rate OMIM:618182
Familial Hypoaldosteronism
Hyponatremia, Orthostatic hypotension, Decreased urinary potassium, Renal salt wasting, Hypovolem... ORPHA:427
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Proteinuria, Failure to thrive in infancy, Dysplastic corpus callosum, Chronic kidney disease, Ne... ORPHA:488627
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Hepatomegaly, Proteinuria, Glomerulonephritis, Short stature, Rhizomelia, Elevated circulating cr... OMIM:614376
Reni Syndrome
Diffuse mesangial sclerosis, Hypertriglyceridemia, Proteinuria, Mesangial hypercellularity, Stage... OMIM:617575
Glycogen Storage Disease Ib
Hepatomegaly, Proteinuria, Short stature, Splenomegaly, Hyperlipidemia, Pancreatitis, Nephrolithi... OMIM:232220
Galloway-Mowat Syndrome 4
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... OMIM:617730
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Elevated left ventricular end-diastolic diameter, Polyuria, Dilated cardiomyopathy,... OMIM:620152
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Ataxia, Polyuria, Renal salt wasting, Enuresis, Hypertension, Hypokalemia, Hypocalc... OMIM:612780
Alstrom Syndrome
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... OMIM:203800
2p15-16.1 microdeletion syndrome
Hydronephrosis DECIPHER:70
Ochoa Syndrome
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Urethral obstructi... ORPHA:2704
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Hepatic cysts, Portal hypertension, Absence of renal corticome... OMIM:263200
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Pauci-Immune Glomerulonephritis
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... ORPHA:93126
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Elevated circulating ... OMIM:606685
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Acne, Paradoxical increased cortisol secretion on dexamethasone... ORPHA:189427
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated circulating acylcarnit... ORPHA:157
Nephropathy, Progressive Tubulointerstitial, With Cholestatic Liver Disease
Elevated hepatic transaminase, Chronic kidney disease, Abnormal tubulointerstitial morphology, Ch... OMIM:602114
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Senior-Boichis Syndrome
Polydipsia, Thickening of the tubular basement membrane, Hepatic fibrosis, Portal hypertension, M... ORPHA:84081
East Syndrome
Salt craving, Ataxia, Renal salt wasting, Renal magnesium wasting, Inability to walk, Enuresis, H... ORPHA:199343
Galloway-Mowat Syndrome 10
Diffuse mesangial sclerosis, Podocyte foot process effacement, Proteinuria, Stage 5 chronic kidne... OMIM:619609
Nephronophthisis 7
Stage 5 chronic kidney disease, Nephronophthisis, Renal tubular atrophy OMIM:611498
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney diseas... OMIM:613845
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Proteinuria, Atrial fibrillation, Cardiac ... ORPHA:439232
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hepatomegaly, Cerebellar hemorrhage, Stage 5 chronic kidney disease, Meth... OMIM:251000
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Acne, Short stature, Premature thelarch... ORPHA:90795
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis ORPHA:2669
Preeclampsia
Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Chronic kidney disease, El... ORPHA:275555
Hemorrhagic Fever-Renal Syndrome
Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitial nephritis... ORPHA:340
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyponatremia, Hyperaldosteronism, Hyperkalemia, Increased circulating renin level OMIM:620126
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Hyperaldosteronism, Dec... OMIM:613677
Acute Adrenal Insufficiency
Decreased circulating cortisol level, Myocardial infarction, Decreased urinary potassium, Renal s... ORPHA:95409
Aa Amyloidosis
Hepatomegaly, Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome,... ORPHA:85445
Congenital Primary Megaureter
Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t... ORPHA:617
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Elevated circulating creatine kinase co... ORPHA:228308
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:613944
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Failure to thrive, Polyuria, Hypocitraturia, Renal magnesium ... OMIM:248250
Senior-Loken Syndrome 5
Stage 5 chronic kidney disease, Nephronophthisis OMIM:609254
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Nephrogenic diabetes insipidus, Hypothyroi... ORPHA:213
Glycogen Storage Disease Iv
Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Cirrhosis, Hepatic failure, Tubulointers... OMIM:232500
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ... ORPHA:90793
Eosinophilic Granulomatosis With Polyangiitis
Glomerulopathy, Renal insufficiency, Recurrent intrapulmonary hemorrhage, Proteinuria, Transient ... ORPHA:183
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Tubulointerstitial nephritis, Hyperalaninemia, Hypertrophic cardiomyopathy, Failure... OMIM:614582
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Hydronephrosis ORPHA:1450
Nephronophthisis 16
Renal insufficiency, Stage 5 chronic kidney disease, Aortic valve stenosis, Polycystic kidney dys... OMIM:615382
Dent Disease
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... ORPHA:1652
Type 1 Diabetes Mellitus
Diabetes mellitus, Polyuria, Decreased level of 1,5 anhydroglucitol in serum, Polydipsia, Polyphagia OMIM:222100
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut
Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Orthostatic hypotension, Sta... OMIM:191800
Nephrotic Syndrome, Type 24
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... OMIM:619263
Renal Caliceal Diverticuli-Deafness Syndrome
Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th... ORPHA:2838
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... OMIM:603965
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Tubulointerstitial fibrosis OMIM:263000
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Spider hemangioma, Chronic pancreatitis, Hyperlip... OMIM:232240
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... OMIM:618314
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Hypertension, Abnormal renal corticomedullary diff... OMIM:616733
Bartter Syndrome, Type 2, Antenatal
Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Increased circulating ren... OMIM:241200
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Increased serum prostaglandin E2, Renal salt wasting, Nephrocalcinosis, Incr... OMIM:601678
Senior-Loken Syndrome
Congenital hepatic fibrosis, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension... ORPHA:3156
Nephronophthisis 20
Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral... OMIM:617271
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ... OMIM:614492
Drug Reaction With Eosinophilia And Systemic Symptoms
Renal insufficiency, Skin rash, Cardiac arrest, Pustule, Myocarditis, Thyroiditis, Hepatitis, Wei... ORPHA:139402
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Hematuria, Tubulointerstitial nephritis, Proteinuria, Short stature OMIM:616901
Distal Renal Tubular Acidosis
Hyperphosphaturia, Failure to thrive, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst,... ORPHA:18
Renal Hypodysplasia/Aplasia 3
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... OMIM:617805
Focal Segmental Glomerulosclerosis 7
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... OMIM:616002
Central Diabetes Insipidus
Hyponatremia, Anorexia, Weight loss, Polydipsia, Failure to thrive, Diabetes insipidus, Nocturia ORPHA:178029
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Proteinuria, Short stature, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechog... OMIM:611555
Nephronophthisis 13
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Hepatic... OMIM:614377
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hyponatremia, Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Increased ci... ORPHA:90791
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:603278
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5
Chronic kidney disease, Elevated circulating creatinine concentration, Renal cyst, Focal segmenta... OMIM:617056
Lysinuric Protein Intolerance
Decreased HDL cholesterol concentration, Decreased response to growth hormone stimulation test, T... ORPHA:470
Nephronophthisis 12
Stage 5 chronic kidney disease, Nephronophthisis OMIM:613820
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Ren... OMIM:243910
Igg4-Related Kidney Disease
Elevated circulating C-reactive protein concentration, Renal interstitial immunoglobulin deposits... ORPHA:449395
Apparent Mineralocorticoid Excess
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:218030
Analbuminemia
Lipodystrophy, Elevated circulating transferrin concentration, Increased LDL cholesterol concentr... OMIM:616000
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated cir... OMIM:613095
Gitelman Syndrome
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... ORPHA:358
Coach Syndrome 3
Renal insufficiency, Stage 5 chronic kidney disease, Portal fibrosis, Renal interstitial inflamma... OMIM:619113
Lymphedema-Distichiasis Syndrome
Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Recurrent ski... ORPHA:33001
Macdermot-Winter Syndrome
Intrauterine growth retardation, Hydronephrosis OMIM:247990
Renal Glucosuria
Glycosuria, Polyuria, Enuresis nocturna OMIM:233100
Nephrotic Syndrome, Type 23
Proteinuria, Minimal change glomerulonephritis, Mesangial hypercellularity, Focal segmental glome... OMIM:619201
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... ORPHA:251274
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Failure to thrive, Short stature, Polyuria, Megacystis, Hypernatremia, Diabetes insipidus OMIM:304800
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Failure to thrive, Short stature, Polyuria, Nephrogenic diabetes insipidus, Megacystis, Hypernatr... OMIM:125800
Generalized Pseudohypoaldosteronism Type 1
Hyponatremia, Glucocortocoid-insensitive primary hyperaldosteronism, Hyperkalemia, Hypovolemic sh... ORPHA:171876
Focal Segmental Glomerulosclerosis 5
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypertension, Mi... OMIM:613237
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne... ORPHA:231625
Nephronophthisis 11
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico... OMIM:613550
Lessel-Kubisch Syndrome
Renal insufficiency, Short stature, Renal hypoplasia, Hypertension, Hypogonadism OMIM:618681
Nephrogenic Diabetes Insipidus
Renal insufficiency, Hydroureter, Anorexia, Nephrogenic diabetes insipidus, Functional abnormalit... ORPHA:223
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Attention deficit hyperactivity disorder, Hypotension, Postural hypote... ORPHA:369873
Hepatorenocardiac Degenerative Fibrosis
Portal hypertension, Renal cyst, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Tubular luminal... OMIM:619902
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Hematuria, Focal segmental glomerulosclerosis, Hypertension OMIM:607832
Snakebite Envenomation
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Neuromuscular dyspha... ORPHA:449285
Bartter Syndrome Type 4
Hyponatremia, Failure to thrive, Small for gestational age, Renal salt wasting, Increased urinary... ORPHA:89938
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Epistaxis, Nephrolithiasis, Abnormal circulating renin, Intracranial hemorrh... ORPHA:369929
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h... ORPHA:231580
Lead Poisoning
Decreased HDL cholesterol concentration, Small for gestational age, Skin rash, Chronic kidney dis... ORPHA:330015
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Splenomegaly, Hepatomegaly, Failure to thrive, Enlarged kidney OMIM:615285
Congenital Anomalies Of Kidney And Urinary Tract 3
Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... OMIM:618270
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydroureter, Hydronephrosis, Pulmonic stenosis OMIM:264140
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hepatomegaly, Hyperphosphaturia, Polyuria, Hypercalcemia, Splenomegaly, Primary hyper... OMIM:239200
Nephrotic Syndrome, Type 26
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... OMIM:620049
Adenine Phosphoribosyltransferase Deficiency
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... OMIM:614723
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:161950
Focal Segmental Glomerulosclerosis 6
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... OMIM:614131
Addison Disease
Decreased circulating cortisol level, Adrenal calcification, Anorexia, Decreased urinary potassiu... ORPHA:85138
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Hy... OMIM:145600
Lipoprotein Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity OMIM:611771
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Abnormal blood ion concentration, Tubulointerstitial nephritis, Colitis, Hypoalbuminemi... ORPHA:37042
Nephrotic Syndrome, Type 9
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Hypoalbuminemia,... OMIM:615573
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Short stature, Abnormality of the kidney, Tubulointerstitial nephritis, Enuresis, Aortic valve st... ORPHA:459061
Nephronophthisis 19
Hepatomegaly, Malformation of the hepatic ductal plate, Splenomegaly, Stage 5 chronic kidney dise... OMIM:616217
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Hepatomegaly, Polyuria, Proximal tubulopathy, Type I diabetes mellitus, Failure to thrive OMIM:560000
Ectopic Aldosterone-Producing Tumor
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Renal cortical adenoma, Hyperte... ORPHA:231632
Congenital Anomalies Of Kidney And Urinary Tract 2
Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete... OMIM:143400
Galloway-Mowat Syndrome 9
Diffuse mesangial sclerosis, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:619603
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Pulmonic stenosis ORPHA:251076
Nephrotic Syndrome, Type 18
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:618177
Nephrotic Syndrome, Type 19
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... OMIM:618178
Nephrotic Syndrome, Type 20
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... OMIM:301028
Bardet-Biedl Syndrome 19
Renal insufficiency, Renal hypoplasia, Obesity, Hypogonadism, Hydronephrosis OMIM:615996
Focal Segmental Glomerulosclerosis 8
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:616032
Senior-Loken Syndrome 3
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisi... OMIM:606995
Adenine Phosphoribosyltransferase Deficiency
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Atrial fibrillatio... ORPHA:976
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Hyponatremia, Renal salt wasting, Hyperkalemia, Hyperactive renin-angiotensin system, Hyperaldost... OMIM:264350
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Coarctation of aorta, N... OMIM:617729
Nephrotic Syndrome, Type 17
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... OMIM:618176
X-Linked Intellectual Disability, Schimke Type
Vesicoureteral reflux, Failure to thrive in infancy, Hydronephrosis, Short stature ORPHA:85285
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy
Focal segmental glomerulosclerosis, Nephropathy, IgA deposition in the glomerulus OMIM:182690
Joubert Syndrome 4
Abnormal renal medulla morphology, Renal insufficiency, Stage 5 chronic kidney disease, Nephronop... OMIM:609583
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Short stature, Obesity, Inc... ORPHA:251004
Image Syndrome
Hypospadias, Adrenal hypoplasia, Hypogonadism, Intrauterine growth retardation, Hydronephrosis ORPHA:85173
Gaisböck Syndrome
Hypertriglyceridemia, Angina pectoris, Diabetes mellitus, Myocardial infarction, Overweight, Hypo... ORPHA:90041
Nephrotic Syndrome, Type 13
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:616893
Alkaptonuria
Coronary artery calcification, Elevated urinary homogentisic acid, Nephrolithiasis, Arthritis, De... OMIM:203500
Nephronophthisis 15
Obesity, Nephronophthisis OMIM:614845
Bardet-Biedl Syndrome 17
Polyuria, Stage 5 chronic kidney disease, Renal cyst, Obesity, Hypogonadism, Micropenis OMIM:615994
C3 Glomerulopathy 3
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... OMIM:614809
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Rheumatoid arthritis OMIM:270150
Cocaine Intoxication
Prolonged QRS complex, Elevated circulating creatine kinase concentration, Myocardial infarction,... ORPHA:90068
Denys-Drash Syndrome
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Nephrotic syndrome, Focal segmental ... OMIM:194080
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal segmental glomerul... OMIM:308990
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Nephrotic Syndrome, Type 2
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, ... OMIM:600995
Hypouricemia, Renal, 1
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... OMIM:220150
Thrombotic Thrombocytopenic Purpura
Renal insufficiency, Proteinuria, Myocardial infarction, Hematuria, Decreased serum creatinine, A... ORPHA:54057
Focal Segmental Glomerulosclerosis 10
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... OMIM:256020
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:403
Rhyns Syndrome
Multicystic kidney dysplasia, Abnormality of the liver, Nephronophthisis ORPHA:140976
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Renal salt wasti... ORPHA:289548
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Renal salt wasting, Increased circulati... ORPHA:168558
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... OMIM:616818
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... ORPHA:93110
Focal Segmental Glomerulosclerosis 9
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome OMIM:616220
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Hypertension, Microscopic hematuria ORPHA:2613
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Renal insufficiency, Dysuria, Elevated circulating creatinine concentration, Hyperuricosuria, Hyp... ORPHA:79233
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Nephrotic syndrome, Hypert... ORPHA:84090
Zollinger-Ellison Syndrome
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Elevated circulating parathyroid hormo... ORPHA:913
Senior-Loken Syndrome 7
Nephronophthisis OMIM:613615
Nephronophthisis 9
Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis OMIM:613824
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... OMIM:123550
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Nephrolithiasis, Hypertension, Second degree atrioventricular block, Hypokalemia, Athetosis, Prim... OMIM:615474
Tubulointerstitial Nephritis And Uveitis Syndrome
Elevated circulating C-reactive protein concentration, Renal interstitial edema, Sterile pyuria, ... ORPHA:91500
Cat-Eye Syndrome
Short stature, Renal hypoplasia/aplasia, Abnormal localization of kidney, Intrauterine growth ret... ORPHA:195
Nelson Syndrome
Increased urinary cortisol level, Pituitary corticotropic cell adenoma, Adrenocorticotropic hormo... ORPHA:199244
Hinman Syndrome
Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone... ORPHA:84085
Parathyroid Carcinoma
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Shortened QT interval, Primary h... ORPHA:143
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Pulmonic stenosis, Facial telangiectasia, Attent... OMIM:620141
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612926
Complement Component C1R/C1S Deficiency
Discoid lupus rash, Arthritis, Nephritis OMIM:216950
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Elevated circulating creatinine concentration, Nephrolithiasis, N... OMIM:179800
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Cardiac arrest, Elevated circulating creatine kinase concentration, Rhabdo... OMIM:212138
Urofacial Syndrome 2
Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti... OMIM:615112
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Acne, Precocious puberty, Increased circul... ORPHA:786
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... OMIM:612924
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Hereditary Xanthinuria
Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Hypouricemia, Xanthin... ORPHA:3467
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Nephroblastoma, Enlarged kidney, Large for gestational age OMIM:618272
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... ORPHA:411634
Cystinosis, Nephropathic
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... OMIM:219800
Carnitine-Acylcarnitine Translocase Deficiency
Dicarboxylic aciduria, Elevated creatine kinase after exercise, Elevated circulating acylcarnitin... ORPHA:159
Bardet-Biedl Syndrome 9
Renal insufficiency, Obesity, Truncal obesity, Polydipsia, Polyphagia OMIM:615986
Hyperparathyroidism-Jaw Tumor Syndrome
Renal insufficiency, Polydipsia, Renal hamartoma, Hypercalcemia, Shortened QT interval, Primary h... ORPHA:99880
Pediatric-Onset Graves Disease
Hyperactivity, Atrial fibrillation, Puberty and gonadal disorders, Congestive heart failure, Thyr... ORPHA:525731
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Paroxysmal atrial tachycardia, Effort-induced p... ORPHA:3282
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Increased circulating NT-proBNP concentration, Recurrent myoglobinuria, ... OMIM:620300
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Hepatomegaly, Hypertriglyceridemia, Proteinuria, Epistaxis, Hyperlipidemia, Nephrolithiasis, Stag... ORPHA:79259
Hypertension, Essential
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure OMIM:145500
Focal Segmental Glomerulosclerosis 4, Susceptibility To
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease OMIM:612551
Xanthinuria, Type I
Xanthine nephrolithiasis, Xanthinuria, Hyperxanthinemia, Pyelonephritis, Hydronephrosis OMIM:278300
Hydroxykynureninuria
Tachycardia, Abnormal circulating tryptophan concentration, Renal tubular acidosis, Hypotension, ... ORPHA:79155
Fanconi Anemia, Complementation Group O
Short stature, Stage 5 chronic kidney disease, Renal cyst, Neonatal death, Hydronephrosis OMIM:613390
Relapsing Fever
Elevated hepatic transaminase, Tachycardia, Epistaxis, Elevated circulating C-reactive protein co... ORPHA:91547
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hypochloremia, Hypokalemia, Hyperactive renin-angiotensin system, Increased circula... OMIM:214700
Legionnaires Disease
Hyponatremia, Renal insufficiency, Pericarditis, Proteinuria, Ataxia, Anorexia, Myocarditis, Hema... ORPHA:549
Whipple Disease
Gastrointestinal hemorrhage, Hyponatremia, Pericarditis, Myositis, Ataxia, Myocardial infarction,... ORPHA:3452
Systemic Capillary Leak Syndrome
Renal insufficiency, Pericarditis, Myocarditis, Oliguria, Weight loss, Hypotension, Arrhythmia, A... ORPHA:188
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Elevated circulating creatine kinase concentration, Cardiomegaly, Macrovesi... OMIM:608836
Igg4-Related Retroperitoneal Fibrosis
Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentration, Anorexia, El... ORPHA:49041
Orofaciodigital Syndrome Xv
Agenesis of corpus callosum, Hydronephrosis OMIM:617127
Urofacial Syndrome 1
Recurrent urinary tract infections, Hydroureter, Urethral valve, Urethral obstruction, Enuresis, ... OMIM:236730
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Galloway-Mowat Syndrome 8
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... OMIM:618349
Familial Glucocorticoid Deficiency
Hyponatremia, Decreased circulating dehydroepiandrosterone concentration, Recurrent urinary tract... ORPHA:361
Congenital Myopathy 19
Renal atrophy, Hydronephrosis, Dysphagia OMIM:618578
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency,... ORPHA:93111
Meningococcal Meningitis
Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Anorexia, Hypo... ORPHA:33475
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Hydronephrosis OMIM:235760
Panhypophysitis
Hyponatremia, Decreased serum testosterone concentration, Orthostatic hypotension, Decreased circ... ORPHA:95513
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Mercury Poisoning
Tachycardia, Anorexia, Hypertension, Hypokalemia, Hypotension, Acute kidney injury ORPHA:330021
Intermediate Uveitis
Anterior uveitis, Psoriasiform dermatitis, Vasculitis, Tubulointerstitial nephritis, Optic neuritis ORPHA:279914
Oculorenocerebellar Syndrome
Glomerular sclerosis, Nephropathy OMIM:257970
Helix Syndrome
Renal insufficiency, Hyperparathyroidism, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia... OMIM:617671
Ocular Motor Apraxia
Nephronophthisis OMIM:257550
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Proteinuria, Nodular regenerative hyperplasia of liver, Raynaud phen... ORPHA:247691
Nephrotic Syndrome, Type 15
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Hypoalbuminemia, ... OMIM:617609
Coach Syndrome 2
Elevated hepatic transaminase, Congenital hepatic fibrosis, Elevated circulating creatinine conce... OMIM:619111
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Focal segmental glomerulosclerosis, Proteinuria, Stage 5 chronic kidney disease, Elevated circula... OMIM:614455
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak, Reduced ... ORPHA:542323
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis OMIM:204690
Jeune Syndrome
Nephropathy, Renal insufficiency, Abnormality of the liver, Nephronophthisis ORPHA:474
Meier-Gorlin Syndrome 8
Unilateral renal hypoplasia, Nephroptosis, Intrauterine growth retardation, Decreased body weight OMIM:617564
Acquired Central Diabetes Insipidus
Pollakisuria, Polydipsia, Diabetes insipidus, Weight loss ORPHA:95626
Wolfram Syndrome, Mitochondrial Form
Diabetes mellitus, Hydroureter, Diabetes insipidus, Hydronephrosis OMIM:598500
Hereditary Central Diabetes Insipidus
Polydipsia, Diabetes insipidus, Weight loss ORPHA:30925
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Chronic pancreatitis, Pancreatic cysts, Stage 5 chronic... OMIM:613159
Nephrotic Syndrome, Type 22
Hypoproteinemia, Microscopic hematuria, Stage 5 chronic kidney disease, Thickened glomerular base... OMIM:619155
22Q11.2 Duplication Syndrome
Ventricular septal defect, Urethral stenosis, Hypoplastic left heart, Transposition of the great ... ORPHA:1727
Leprechaunism
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Long penis, Hyperinsulinemia, Hyper... ORPHA:508
Renal Tubular Dysgenesis
Renotubular dysgenesis, Abnormality of the urinary system, Anuria, Hypotension OMIM:267430
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Insulin-resistant... ORPHA:90301
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Polyuria, Elevated circulating thyroid-stimulating hormone co... OMIM:618183
Vesicoureteral Reflux 2
Vesicoureteral reflux, Renal hypoplasia OMIM:610878
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Increased pineal volume, Precocious puberty, Insulin-resista... ORPHA:769
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Renal insufficiency, Tachycardia, Atrial fibrillation, Ataxia, Faci... ORPHA:31826
Galloway-Mowat Syndrome 1
Diffuse mesangial sclerosis, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmenta... OMIM:251300
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hypertyrosinemia, Renal insufficiency, Hepatomegaly, Elevated circul... OMIM:276700
Corticosteroid-Binding Globulin Deficiency
Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp... OMIM:611489
Meckel Syndrome, Type 8
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys OMIM:613885
Teratoma, Pineal
Polyuria OMIM:273120
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Enamel hypomineralization, Bicarbonaturia, Bicarbonate-wasting renal tubular a... ORPHA:47159
Brain Malformations With Or Without Urinary Tract Defects
Renal hypoplasia, Vesicoureteral reflux, Failure to thrive, Agenesis of corpus callosum, Hydronep... OMIM:613735
Pierson Syndrome
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Retinal hemorrhage, Nep... OMIM:609049
Thrombotic Thrombocytopenic Purpura, Hereditary
Proteinuria, Transient ischemic attack, Myocardial infarction, Hemolytic-uremic syndrome, Jaundic... OMIM:274150
Genetic Recurrent Myoglobinuria
Dark urine, Proximal muscle weakness in upper limbs, Renal insufficiency, Myositis, Recurrent myo... ORPHA:99845
Joubert Syndrome 35
Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections OMIM:618161
Autosomal Recessive Polycystic Kidney Disease
Cholangitis, Biliary hyperplasia, Abnormal intrahepatic bile duct morphology, Hepatic fibrosis, H... ORPHA:731
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalb... OMIM:614748
Williams-Beuren Region Duplication Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Unilateral rena... OMIM:609757
6P22 Microdeletion Syndrome
Hydronephrosis ORPHA:251046
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Elevat... OMIM:617478
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydroureter, Hydronephrosis OMIM:618240
Senior-Loken Syndrome 8
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Hepatic cysts, Pancr... OMIM:616307
Beta-Ketothiolase Deficiency
Ketonuria, Ataxia, Anorexia, Hyperammonemia, Weight loss, Hypertension, Agitation, Hyperuricemia,... ORPHA:134
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Neuroleptic Malignant Syndrome
Urinary incontinence, Elevated circulating creatine kinase concentration, Pulmonary embolism, Hyp... ORPHA:94093
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... OMIM:223900
Diabetic Embryopathy
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Abnormality of the pan... ORPHA:1926
Webb-Dattani Syndrome
Neurogenic bladder, Short stature, Decreased response to growth hormone stimulation test, Anterio... OMIM:615926
Kleine-Levin Syndrome
Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexuality, Agitatio... ORPHA:33543
Endove Syndrome, Limb-Brain Type
Neurogenic bladder, Recurrent urinary tract infections, Osteomyelitis, Failure to thrive, Hydrone... OMIM:619218
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Precocious puberty, Pituitar... ORPHA:91354
Holzgreve Syndrome
Renal agenesis, Renal hypoplasia OMIM:236110
Nipah Virus Disease
Hypotension, Anorexia ORPHA:99825
Lipodystrophy, Familial Partial, Type 7
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Orthostatic hy... OMIM:606721
Rhyns Syndrome
Renal insufficiency, Short stature, Decreased response to growth hormone stimulation test, Chroni... OMIM:602152
Joubert Syndrome 16
Renal cyst, Nephronophthisis OMIM:614465
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Proteinuria, Congestive heart failure, Splenomegaly, Recurrent pneumonia, Nephrotic... OMIM:617303
Neuroendocrine Tumor Of The Colon
Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Melena, Palpitations, ... ORPHA:100080
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir... OMIM:614921
Wolfram Syndrome
Gastrointestinal hemorrhage, Recurrent urinary tract infections, Diabetes mellitus, Ataxia, Dysur... ORPHA:3463
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Vesicoureteral reflux, Short stature, Hydronephrosis, Decreased body weight OMIM:618265
Pyruvate Dehydrogenase E1-Alpha Deficiency
Increased serum pyruvate, Small for gestational age, Ataxia, Inability to walk, Flexion contractu... ORPHA:79243
Erdheim-Chester Disease
Renal insufficiency, Ataxia, Dysuria, Hypogonadotropic hypogonadism, Congestive heart failure, We... ORPHA:35687
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Congestive heart failure, Myocarditis, Hypovolemia, Oliguria, ... ORPHA:31824
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Renal insufficiency, Multiple glomerular cysts, Hyperuricemia, Abnormal renal tubule morphology OMIM:609886
Bacterial Toxic-Shock Syndrome
Shock, Renal insufficiency, Fasciitis, Tachycardia, Glomerulonephritis, Recurrent urinary tract i... ORPHA:36234
Igg4-Related Aortitis
Increased inflammatory response, Thoracic aortic aneurysm, Elevated circulating C-reactive protei... ORPHA:449400
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Cholestasis, Hepat... OMIM:615630
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Unilateral renal agenesis, Portal hypertension, Sple... OMIM:216360
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis OMIM:607598
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Hepatomegaly, Dysplastic corpus callosum, Lacticaciduria, Renal hypoplasia, Aminoaciduria, 3-Meth... OMIM:604273
Perry Syndrome
Hypotension, Weight loss ORPHA:178509
Thyrocerebrorenal Syndrome
Renal insufficiency, Euthyroid goiter, Nephritis ORPHA:3327
Desmoid Tumor
Gastrointestinal hemorrhage, Hydronephrosis, Abnormality of the upper urinary tract ORPHA:873
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Serotonin Syndrome
Restlessness, Tachycardia, Rhabdomyolysis, Hypertension, Agitation, Hypotension, Acute kidney injury ORPHA:43116
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Hyponatremia, Calcinosis, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoac... OMIM:617913
Ritscher-Schinzel Syndrome 1
Hypospadias, Ventricular septal defect, Double outlet right ventricle, Hypoplastic left heart, Pu... OMIM:220210
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Atrial septal defect, Giant cell hepatitis, Ventricular septal def... OMIM:208085
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Anorexia, Right ventricular failure, Elevated circulating growth hormone... ORPHA:97287
Vesicoureteral Reflux 3
Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec... OMIM:613674
Wolfram Syndrome 1
Neurogenic bladder, Hydroureter, Diabetes mellitus, Diabetes insipidus, Growth delay, Cardiomyopa... OMIM:222300
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Hypergonadotropic hypogonadism, Iridocyclitis, Primary adrenal insufficiency,... ORPHA:227990
Tetraploidy
Intrauterine growth retardation, Aplasia/Hypoplasia of the thymus, Hydronephrosis, Renal hypoplas... ORPHA:3305
Cholera
Hyponatremia, Tachycardia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypo... ORPHA:173
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Iridocyclitis,... ORPHA:227982
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Double outlet right ventricle... OMIM:179613
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Dysmetria, Gait ataxia, Dysphagia, Pollakisuria, Hypertension, Gait disturbance, Hypotens... ORPHA:93256
Fanconi Renotubular Syndrome 3
Hyperphosphaturia, Elevated circulating creatinine concentration, Glycosuria, Aminoaciduria, Low-... OMIM:615605
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Long penis, Decreased circulating aldosterone level, Adrenogenita... OMIM:202010
Distal Duplication 6P
Short stature, Renal hypoplasia, Abnormality of the urinary system, Intrauterine growth retardati... ORPHA:1745
Neuroendocrine Tumor Of The Rectum
Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Hematochezia, Melena, ... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Tricuspid regurgitation, Anorexia, Right ventricular failure, Weight loss, Hematochezia, Melena, ... ORPHA:100082
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... OMIM:610205
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Multiple glomerular cysts, Hypospadias, Abnormality of the kidney,... OMIM:137920
Lymphoid Interstitial Pneumonia
Hepatomegaly, Skin rash, Eczema, Raynaud phenomenon, Bronchiectasis, Weight loss, Keratoconjuncti... ORPHA:79128
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormality of thyroid physiology, Abnormal blood ion concentration, Abnormal ... ORPHA:411629
Joubert Syndrome 15
Micropenis, Nephronophthisis OMIM:614464
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Unilateral renal agenesis, Renal hypoplasia, Abnormal heart morphology... OMIM:618494
Turner Syndrome Due To Structural X Chromosome Anomalies
Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large i... ORPHA:99413
Mosaic Monosomy X
Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large i... ORPHA:99228
Monosomy X
Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large i... ORPHA:99226
Turner Syndrome
Myocardial infarction, Ectopic kidney, Gastrointestinal inflammation, Inflammation of the large i... ORPHA:881
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Cholangitis, Lacticaciduria, Tubulointerstitial nephritis, Aminoaciduria, Neona... OMIM:124000
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hydronephrosis OMIM:619797
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Cardiomyopathy, Familial Restrictive, 3
Abnormal ST segment, Reduced left ventricular ejection fraction, Hypotension, Left axis deviation... OMIM:612422
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Stillbirth, Aortic valve stenosis, Pulmonic stenosis, Hypertrophic cardiomyopathy, ... OMIM:615415
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... OMIM:235400
Galloway-Mowat Syndrome 5
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... OMIM:617731
Sarcoidosis
Heart block, Ventricular tachycardia, Uveitis, Nephrocalcinosis, Tubulointerstitial nephritis, Hy... ORPHA:797
Primary Sjögren Syndrome
Renal insufficiency, Myositis, Chronic active hepatitis, Abnormality of the kidney, Glomeruloneph... ORPHA:289390
Ileal Neuroendocrine Tumor
Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Weight loss, Small intestine c... ORPHA:100078
Galloway-Mowat Syndrome 6
Proteinuria, Nephrotic syndrome, Focal segmental glomerulosclerosis, Hypoalbuminemia, Abnormal re... OMIM:618347
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Duplicated collecting system, Elevated circulating aspartate aminotransferase concentration, Conj... OMIM:617093
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Glomerulopathy, Renal insufficiency, Pericarditis, Sinusitis, Epista... ORPHA:727
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the... ORPHA:99889
Staphylococcal Necrotizing Pneumonia
Shock, Diabetes mellitus, Elevated circulating C-reactive protein concentration, Addictive alcoho... ORPHA:36238
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Neonatal death, Urethral atresia, Hydronephrosis, Enlarged kidney OMIM:314390
Galloway-Mowat Syndrome 2, X-Linked
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Nephrotic syndrom... OMIM:301006
Late-Onset Isolated Acth Deficiency
Hyponatremia, Hypoparathyroidism, Orthostatic hypotension, Decreased circulating cortisol level, ... ORPHA:199299
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2
Rhizomelia, Short stature, Unilateral renal agenesis, Chronic kidney disease, Renal hypoplasia OMIM:617661
Sepsis In Premature Infants
Tachycardia, Small for gestational age, Elevated circulating C-reactive protein concentration, Ol... ORPHA:90051
Tetrasomy 15Q26
Atrial septal defect, Hypoplastic aortic arch, Hydronephrosis, Horseshoe kidney OMIM:614846
Scrub Typhus
Myocarditis, Renal insufficiency, Hypotension ORPHA:83317
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Diffuse mesangial sclerosis, Hepatomegaly, Splenomegaly OMIM:102700
Granulomatosis With Polyangiitis
Sinusitis, Elevated circulating C-reactive protein concentration, Otitis media, Chronic otitis me... ORPHA:900
Joubert Syndrome 7
Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis OMIM:611560
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Obesity, Polydipsia, Abnor... ORPHA:3157
Infant Botulism
Hyponatremia, Cardiac arrest, Anorexia, Hypertension, Hypotension, Dysphagia ORPHA:178478
Netherton Syndrome
Skin rash, Eczema, Short stature, Ectopic kidney, Aminoaciduria, Erythroderma, Hydronephrosis ORPHA:634
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease
Diabetes mellitus, Proteinuria, Cerebral artery atherosclerosis, Renal artery stenosis, Nephropat... OMIM:209010
Joubert Syndrome 37
Hepatomegaly, Short stature, Obesity, Micropenis, Hydronephrosis OMIM:619185
Autosomal Dominant Hypocalcemia
Congestive heart failure, Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypo... ORPHA:428
H Syndrome
Diabetes mellitus, Hypertriglyceridemia, Abnormality of the kidney, Psoriasiform dermatitis, Shor... ORPHA:168569
Myh9-Related Disease
Spontaneous, recurrent epistaxis, Renal insufficiency, Proteinuria, Myocardial infarction, Nephro... ORPHA:182050
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Duplicated collecting system, Hepatomegaly, Hypospadias, Small for gestational age, Elevated circ... OMIM:301056
Spondyloenchondrodysplasia With Immune Dysregulation
Raynaud phenomenon, Tubulointerstitial fibrosis OMIM:607944
Joubert Syndrome 3
Lateral ventricle dilatation, Stage 5 chronic kidney disease, Nephronophthisis OMIM:608629
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Renal hypoplasia, Obesity OMIM:600151
Joubert Syndrome 6
Stage 5 chronic kidney disease, Bile duct proliferation, Hepatic fibrosis, Nephronophthisis, Abno... OMIM:610688
Neuroendocrine Tumor Of Stomach
Tricuspid regurgitation, Anorexia, Right ventricular failure, Hematemesis, Increased circulating ... ORPHA:100075
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Adrenocorticotropic hormone excess, Adrenal insufficiency, Hyperaldosteronism, Renal salt wasting OMIM:613743
Pde4D Haploinsufficiency Syndrome
Hypospadias, Abnormal dental enamel morphology, Obesity, Elevated circulating parathyroid hormone... ORPHA:439822
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness
Glomerular basement membrane disruption, Nephritis, Stage 5 chronic kidney disease, Thickened glo... OMIM:609057
Cranioectodermal Dysplasia 1
Hepatomegaly, Rhizomelia, Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney... OMIM:218330
Andersen-Tawil Syndrome
Prolonged QT interval, Short stature, Bidirectional ventricular ectopy, Polymorphic ventricular t... ORPHA:37553
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Acute hepatic failure, Renal insufficiency, Elevated hepatic transam... ORPHA:537
Alpha-Fetoprotein, Hereditary Persistence Of
Elevated circulating alpha-fetoprotein concentration OMIM:615970
46,Xy Sex Reversal 4
Elevated circulating creatinine concentration, Hydronephrosis, Increased blood urea nitrogen, Ure... OMIM:154230
Heme Oxygenase 1 Deficiency
Hepatomegaly, Proteinuria, Epistaxis, Elevated circulating C-reactive protein concentration, Diff... OMIM:614034
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... ORPHA:347
Chromosome 5Q12 Deletion Syndrome
Macroglossia, Decreased body mass index, Hypotension OMIM:615668
Atresia Of Urethra
Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec... ORPHA:105
Lujo Hemorrhagic Fever
Shock, Renal insufficiency, Elevated circulating C-reactive protein concentration, Myocarditis, O... ORPHA:319213
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated hepatic transaminase, Myoglobinuria, Elevated circulating creatinine concentration, Elev... OMIM:620138
Kleefstra Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Bicuspid aortic valve, Ventricular septal ... ORPHA:261494
Prune Belly Syndrome
Hydroureter, Congenital posterior urethral valve, Hydronephrosis OMIM:100100
Gapo Syndrome
Hepatomegaly, Tubulointerstitial fibrosis OMIM:230740
Osteopetrosis, Autosomal Recessive 9
Stage 3 chronic kidney disease, Elevated circulating creatinine concentration, Hyperkalemia OMIM:620366
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis OMIM:602418
Bor Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Vesicoureteral reflu... ORPHA:107
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Hydronephrosis OMIM:618060
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Dopamine Beta-Hydroxylase Deficiency
Abnormal EKG, Orthostatic hypotension, Elevated urinary dopamine level, Elevated circulating crea... ORPHA:230
3-Hydroxy-3-Methylglutaric Aciduria
Ketonuria, Ataxia, Cardiac arrest, Anorexia, Dilated cardiomyopathy, Hyperammonemia, Weight loss,... ORPHA:20
Hardikar Syndrome
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Atrial septal defect, Vesicoureteral... OMIM:301068
Diaphanospondylodysostosis
Nephrogenic rest, Nephroblastomatosis, Disproportionate short-trunk short stature, Horseshoe kidn... OMIM:608022
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Hypotension, Pulmonary arterial hypertension, Failure to thrive, Elevated ci... OMIM:263400
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Sinus tachycardia, Elevated circulating creatine kinase concentration, Ata... ORPHA:466650
Dengue Fever
Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Hypotension, Hypoproteinemia ORPHA:99828
Microphthalmia, Syndromic 9
Renal malrotation, Ventricular septal defect, Pulmonary artery atresia, Hypoplastic left atrium, ... OMIM:601186
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Growth delay, Failure to thrive, Hydronephrosis ORPHA:488613
Acquired Von Willebrand Syndrome
Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Hematuria, Intracranial hemorrhage,... ORPHA:99147
Poliomyelitis
Skeletal muscle atrophy, Anorexia, Hypoplasia of the musculature, Inability to walk, Abnormal ske... ORPHA:2912
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve a... ORPHA:210122
Isolated Atp Synthase Deficiency
Hepatomegaly, Short stature, Dilated cardiomyopathy, Renal hypoplasia, Hyperammonemia, 3-Methylgl... ORPHA:254913
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Hypoalbuminemia, Micropenis, Hepatic steatosis, Self-mutilation, Hepatomegaly, ... OMIM:619487
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Congestive heart failure, ST segment elevation, Short... OMIM:261740
Diffuse Alveolar Hemorrhage
Hematuria, Elevated circulating creatinine concentration, Pulmonary venous hypertension, Proteinuria ORPHA:90060
Microcephaly 26, Primary, Autosomal Dominant
Short stature, Dysplastic corpus callosum, Recurrent pneumonia, Failure to thrive, Hydronephrosis OMIM:619179
Cutaneous Mastocytoma
Telangiectasia of the skin, Hypotension, Telangiectasia macularis eruptiva perstans ORPHA:79455
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Proteinuria, Heparan sulfate excretion in urine, Congestive... ORPHA:505248
Johanson-Blizzard Syndrome
Hypoplasia of penis, Diabetes mellitus, Hypospadias, Short stature, Intrauterine growth retardati... ORPHA:2315
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Abnormal renal tubular resorption, Congestive heart failure, Dilated cardio... ORPHA:73224
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Duplicated collecting system, Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Dec... ORPHA:541423
Familial Cold Urticaria
Polydipsia ORPHA:47045
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Renal insufficiency, Diabetes mellitus, Psoriasiform dermatitis, Unilateral r... ORPHA:2237
Kury-Isidor Syndrome
Ventricular septal defect, Hydronephrosis, Attention deficit hyperactivity disorder OMIM:619762
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Renal insufficiency, Portal hypertension, Splenomegaly, Stage 5 chronic kidney dise... OMIM:208540
Congenital Isolated Acth Deficiency
Hyponatremia, Decreased circulating cortisol level, Adrenal hypoplasia, Hyperkalemia, Adrenocorti... ORPHA:199296
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Renal insufficiency, Membranoproliferative glomerul... ORPHA:91139
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Coenzyme Q10 Deficiency, Primary, 1
Proteinuria, Recurrent myoglobinuria, Elevated circulating creatine kinase concentration, Nephrot... OMIM:607426
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Proportionate short stature, Precocious puberty, Obesity, Growth delay, Periodontitis, Type I dia... OMIM:619269
Frasier Syndrome
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease OMIM:136680
Even-Plus Syndrome
Recurrent urinary tract infections, Severe short stature, Dysplastic corpus callosum, Renal hypop... OMIM:616854
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Anorexia, Portal hypertension, Weight loss, Hypotension ORPHA:98850
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T... OMIM:301050
Axial Mesodermal Dysplasia Spectrum
Renal hypoplasia/aplasia, Abnormality of the spleen, Abnormality of the ureter, Renal cyst, Abnor... ORPHA:1834
Endove Syndrome, Limb-Only Type
Vesicoureteral reflux, Hydronephrosis OMIM:619217
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome
Growth delay, Intrauterine growth retardation, Hypoplasia of penis, Hydronephrosis ORPHA:2083
9Q21.13 Microdeletion Syndrome
Hydronephrosis, Abnormal heart morphology ORPHA:531151
Congenital Anomalies Of Kidney And Urinary Tract 1
Unilateral renal agenesis, Stage 5 chronic kidney disease, Renal hypoplasia, Vesicoureteral reflu... OMIM:610805
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Hypospadias, Cardiomegaly, Micropenis, Intrauterine growth retardation... OMIM:616897
Toluene Embryopathy
Short stature, Hydronephrosis, Abnormal localization of kidney ORPHA:1920
Suleiman-El-Hattab Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hydronephrosis OMIM:618950
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Abnormality of the kidney, Tricuspid stenosis, Multiple mus... ORPHA:391641
Bardet-Biedl Syndrome 12
Hydroureter, Obesity, Cystic renal dysplasia, Hypogonadism, Hydronephrosis OMIM:615989
Hadziselimovic Syndrome
Pulmonary artery atresia, Failure to thrive, Short stature, Renal hypoplasia OMIM:612946
Complement Factor I Deficiency
Renal insufficiency, Recurrent urinary tract infections, Recurrent skin infections, Glomeruloneph... OMIM:610984
Arterial Calcification, Generalized, Of Infancy, 1
Myocardial infarction, Cardiomegaly, Coronary artery calcification, Congestive heart failure, Car... OMIM:208000
Sporadic Pheochromocytoma/Secreting Paraganglioma
Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestiv... ORPHA:276621
Distal Triplication 15Q
Abnormality of the kidney, Hypoplastic aortic arch, Dilatation of the renal pelvis, Horseshoe kid... ORPHA:314588
Cardiac Valvular Dysplasia 1
Pulmonary artery atresia, Atrial septal defect, Patent foramen ovale, Tricuspid regurgitation, Pu... OMIM:212093
Cat Eye Syndrome
Atrial septal defect, Renal agenesis, Ventricular septal defect, Biliary atresia, Horseshoe kidne... OMIM:115470
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Hydronephrosis OMIM:300048
Adult Acute Respiratory Distress Syndrome
Shock, Diabetic ketoacidosis, Vasculitis, Hypotension ORPHA:70578
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Decreased circulating cortisol level, Renal salt wasting, Premature adrenarche, Hyponatremia, Hyp... ORPHA:90794
Trisomy 17P
Hypoplasia of penis, Urethral valve, Short stature, Urethral stenosis, Growth delay, Polycystic k... ORPHA:261290
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Failure to thrive in infancy, Short stature, Rhizomelia, Hemoly... OMIM:611209
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ... OMIM:617397
3C Syndrome
Hypoplasia of penis, Hypospadias, Ventricular septal defect, Abnormal mitral valve morphology, Ab... ORPHA:7
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Flexion contracture, O... ORPHA:220393
Congenital Disorder Of Glycosylation, Type Iie
Hepatomegaly, Neurogenic bladder, Elevated circulating aspartate aminotransferase concentration, ... OMIM:608779
Epidermolysis Bullosa Simplex With Pyloric Atresia
Renal dysplasia, Elevated circulating creatine kinase concentration, Abnormality of the urethra, ... ORPHA:158684
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Proteinuria, Nephrotic syndrome, Glomerular sclerosis, Abnormal ... OMIM:619428
Zttk Syndrome
Aortic regurgitation, Short stature, Polyuria, Unilateral renal agenesis, Dysplastic corpus callo... OMIM:617140
Systemic Lupus Erythematosus
Pericarditis, Lupus nephritis, Arthritis, Malar rash, Nephritis OMIM:152700
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Thyroiditis, Weight loss, Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Nod... ORPHA:79078
Junctional Epidermolysis Bullosa With Pyloric Atresia
Urethral stricture, Recurrent skin infections, Urinary bladder inflammation, Hydronephrosis, Hema... ORPHA:79403
Renal Coloboma Syndrome
Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal... ORPHA:1475
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hepatomegaly, Hypertrophic cardiomyopathy, Ketonuria, Renal hypoplasia OMIM:619053
Necrotizing Enterocolitis
Shock, Hyponatremia, Small for gestational age, Bradycardia, Hypotension ORPHA:391673
Trisomy 13
Ventricular septal defect, Abnormality of the ureter, Multiple renal cysts, Atrial septal defect,... ORPHA:3378
Hellp Syndrome
Proteinuria, Cerebral hemorrhage, Increased body weight, Hemoglobinuria, Hypotension, Acute kidne... ORPHA:244242
Orofaciodigital Syndrome Xvii
Micropenis, Short stature, Renal hypoplasia, Decreased body weight OMIM:617926
Pallister-Hall Syndrome
Renal dysplasia, Thyroid dysgenesis, Decreased circulating cortisol level, Hydroureter, Short sta... OMIM:146510
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Cardiomegaly, Adrenocortical carcinoma, Pancreatic hyper... OMIM:130650
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydroureter, Portal hypertension, Megacystis, Hepatic failure, Hydronephrosis OMIM:619431
Vacterl/Vater Association
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, A... ORPHA:887
Noonan Syndrome 4
Ureteral duplication, Short stature, Large for gestational age, Pulmonic stenosis, Hypertrophic c... OMIM:610733
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hypokalemia OMIM:605635
Thyrocerebroretinal Syndrome
Nephritis, Goiter OMIM:274240
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... OMIM:600740
Alexander Disease
Diabetes mellitus, Ataxia, Facial palsy, Sudden cardiac death, Precocious puberty, Hypertension, ... ORPHA:58
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Cardiomy... OMIM:614922
X-Linked Intellectual Disability Due To Gria3 Mutations
Micropenis, Slender build, Hydronephrosis, Short stature ORPHA:364028
Khan-Khan-Katsanis Syndrome
Ureteral duplication, Tricuspid regurgitation, Short stature, Renal hypoplasia, Renal cyst, Colpo... OMIM:618460
Neuromuscular Oculoauditory Syndrome
Elevated circulating creatine kinase concentration, Unsteady gait, Knee flexion contracture, Calf... OMIM:618733
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Myocardial infarction, Peritonitis, Elevated circulating creatinine concent... ORPHA:90038
Dworschak-Punetha Neurodevelopmental Syndrome
Elevated circulating creatine kinase concentration, Dysplastic corpus callosum, Unilateral renal ... OMIM:619955
Pheochromocytoma
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... OMIM:171300
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Elevated circulating creatinine concentration, Increased blood urea nitrogen, Hepat... OMIM:617872
Acute Monoblastic/Monocytic Leukemia
Central hypothyroidism, Oliguria, Weight loss ORPHA:514
Zellweger Syndrome
Hepatomegaly, Multicystic kidney dysplasia, Hypospadias, Short stature, Primary adrenal insuffici... ORPHA:912
Fanconi Anemia, Complementation Group I
Short stature, Decreased response to growth hormone stimulation test, Hypothyroidism, Abnormal re... OMIM:609053
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Hypocalcemia,... OMIM:235255
Lysosomal Acid Lipase Deficiency
Hyponatremia, Hypertriglyceridemia, Hypercholesterolemia, Adrenal calcification, Cachexia, Renal ... ORPHA:275761
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Short stature, Splenomegaly, Growth delay, Reduced renal corticomedullary different... OMIM:618541
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, Impulsivity, Abnormal heart morphology, Abnormality of the urinary system, Aplasia/... ORPHA:96092
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Pancreatic lymphangiectasis, Abnormal rena... ORPHA:1655
Tarp Syndrome
Subdural hemorrhage, Horseshoe kidney, Neonatal death, Intrauterine growth retardation, Failure t... OMIM:311900
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Atrial septal defect, Patent foramen ovale, Hydronephrosis OMIM:620327
Congenital Enterovirus Infection
Myocarditis, Hyperammonemia, Cardiomyopathy, Hypoalbuminemia, Hypotension ORPHA:292
Odontochondrodysplasia 1
Dentinogenesis imperfecta, Polycystic kidney dysplasia, Nephronophthisis OMIM:184260
Bresek Syndrome
Hypoplasia of the bladder, Renal hypoplasia, Growth delay, Neonatal death, Vesicoureteral reflux,... ORPHA:85284
Intellectual Disability, Buenos-Aires Type
Abnormal cardiac septum morphology, Hydronephrosis ORPHA:3079
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Umbilical hernia, Hypertension, Renal hypoplasia, Absence of renal corticomedullary differentiation OMIM:619758
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Subvalvular aortic stenosis, Atrial septal defect, Pelvic kidney, Hydr... OMIM:613001
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Renal insufficiency, Hypoplasia of penis, Telangiectasia of the skin, Short stature, Renal hypopl... ORPHA:85321
Al-Gazali Syndrome
Failure to thrive, Hydronephrosis, Recurrent pneumonia OMIM:609465
Marburg Hemorrhagic Fever
Shock, Renal insufficiency, Tachycardia, Pericarditis, Elevated circulating creatine kinase conce... ORPHA:99826
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Decreased circulating hepcidin concentration, Hep... ORPHA:101330
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Tongue thrusting, Choreoathetosis, Athetosis, Hypotension, Limb hypertonia OMIM:608643
Biliary, Renal, Neurologic, And Skeletal Syndrome
Secundum atrial septal defect, Conjugated hyperbilirubinemia, Primum atrial septal defect, Inlet ... OMIM:619534
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Increased serum beta-hexosaminidase, Cardiomegaly, Congestive... OMIM:252500
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Anorexia, Abnormal left ... ORPHA:99827
Zaki Syndrome
Patent foramen ovale, Renal agenesis, Hydronephrosis OMIM:619648
Czeizel-Losonci Syndrome
Dextrocardia, Ureteral agenesis, Abnormality of the urinary system, Congenital megaureter, Hydron... ORPHA:2437
Joubert Syndrome 22
Intrauterine growth retardation, Renal hypoplasia OMIM:615665
Mesomelia-Synostoses Syndrome
Short stature, Hydronephrosis ORPHA:2496
Carey-Fineman-Ziter Syndrome
Short stature, Glandular hypospadias, Growth delay, Hydronephrosis, Hypertensive crisis ORPHA:1358
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Eczema, Abnormality of the endocrine system, Pseudohypoparathyroidism, Renal hypoplasia, Obesity,... ORPHA:464288
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Short stature, Polycystic kidney dysplasia, Micropenis, Agenesis of corpus callosum, Renal dyspla... OMIM:613091
Split-Hand/Foot Malformation 3
Renal hypoplasia OMIM:246560
1Q21.1 Microdeletion Syndrome
Short stature, Interrupted aortic arch, Vesicoureteral reflux, Intrauterine growth retardation, F... ORPHA:250989
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Splenomegaly, Hepatosplenomegaly, Subconjunctival hemorrhage, Mul... ORPHA:464329
Koolen-De Vries Syndrome
Ureteral duplication, Overfriendliness, Hypospadias, Bicuspid aortic valve, Abnormal cardiac sept... ORPHA:96169
Leptospirosis
Pericarditis, First degree atrioventricular block, Anorexia, Cellular urinary casts, Rhabdomyolys... ORPHA:509
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Melnick-Needles Syndrome
Vesicoureteral reflux, Abnormal cardiac septum morphology, Hydronephrosis ORPHA:2484
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900
Micro Syndrome
Hypoplasia of penis, Short stature, Abnormal localization of kidney, Delayed puberty, Intrauterin... ORPHA:2510
Peroxisome Biogenesis Disorder 1A (Zellweger)
Intrahepatic biliary dysgenesis, Hepatomegaly, Hypospadias, Ventricular septal defect, Dysphagia,... OMIM:214100
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Proteinuria, Weight loss, Hematuria, Syncope, Renal artery ... ORPHA:71273
Insulin-Resistance Syndrome Type B
Osteoarthritis, Fasting hyperinsulinemia, Increased body weight, Hypoalbuminemia, Hypotriglycerid... ORPHA:2298
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Inguinal hernia, Multicystic kidney dysplasia, Camptodactyly of finger, Fac... ORPHA:261349
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Hypoplasia of the bladder, Hydroureter, Small for gestational age, Short stature, Valvular pulmon... OMIM:300707
Hereditary Pheochromocytoma-Paraganglioma
Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine level, Congestiv... ORPHA:29072
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hyponatremia, Decreased response to growth hormone stimulation test, Central diabetes insipidus, ... ORPHA:293987
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome
Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ... ORPHA:2973
Chromosome 2P16.1-P15 Deletion Syndrome
Short stature, Postnatal growth retardation, Hypogonadism, Intrauterine growth retardation, Micro... OMIM:612513
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Congestive heart failure, Oliguria, Heart murmur, Bacterial endocarditis, D... ORPHA:1054
Severe Generalized Junctional Epidermolysis Bullosa
Urethral stricture, Abnormal blood ion concentration, Renal cyst, Gastrointestinal inflammation, ... ORPHA:79404
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Minimal change glomerulonephritis, Pulmonary embolism, Hyperlipidemia, Chronic kidney disease, St... ORPHA:567546
Cirrhotic Cardiomyopathy
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... ORPHA:57777
Baller-Gerold Syndrome
Failure to thrive in infancy, Short stature, Abnormality of the ureter, Abnormal localization of ... ORPHA:1225
Trisomy 1Q
Multicystic kidney dysplasia, Congenital megaureter, Ventricular septal defect, Hydronephrosis ORPHA:261344
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Ventricular septal defect, Hydronephrosis ORPHA:457193
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Hypospadias, Atrial septal defect, Pulmonary arterial hypertension, Hy... OMIM:616449
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Anuria, Diabetes mellitus, Acute colitis, Pneumonia, Myocarditis, Pancreatitis, Hyp... ORPHA:544482
Mosaic Trisomy 9
Renal dysplasia, Hypoplasia of penis, Ventricular septal defect, Dextrocardia, Abnormal heart val... ORPHA:99776
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydroureter, Megacystis, Fetal megacystis, Neonatal death, Hydronephrosis OMIM:619362
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Brain-Lung-Thyroid Syndrome
Atrial septal defect, Hyperactivity, Hypospadias, Ventricular septal defect, Abnormal eating beha... ORPHA:209905
Branchio-Oculo-Facial Syndrome
Multicystic kidney dysplasia, Renal agenesis, Short stature, Intrauterine growth retardation, Hyd... ORPHA:1297
Duplication Of Urethra
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... ORPHA:237
Hennekam-Beemer Syndrome
Telangiectasia of the skin, Camptodactyly of finger, Hypotension, Arrhythmia, Failure to thrive ORPHA:2135
Multiple Myeloma
Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Abnormality of the bl... ORPHA:29073
Visceral Myopathy 1
Megacystis, Hydronephrosis, Urinary retention, Dysphagia, Vesicoureteral reflux, Pancreatitis OMIM:155310
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Unilateral renal atrophy, Nephritis, Renal dysplasia, Pyelonephritis OMIM:314300
Chondrodysplasia Punctata 2, X-Linked Dominant
Rhizomelia, Postnatal growth retardation, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholesteno... OMIM:302960
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal cyst, Ureteral agenesis, Stillbirth, Neonatal death, Renal dysplasia OMIM:236500
Mckusick-Kaufman Syndrome
Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl... ORPHA:2473
Microcephaly 20, Primary, Autosomal Recessive
Short stature, Renal hypoplasia, Ureteral agenesis, Bilateral renal agenesis, Intrauterine growth... OMIM:617914
Hemihyperplasia-Multiple Lipomatosis Syndrome
Nephroblastoma, Telangiectasia of the skin, Enlarged kidney, Seborrheic dermatitis ORPHA:276280
Joubert Syndrome 5
Aggressive behavior, Impaired renal concentrating ability, Stage 5 chronic kidney disease, Renal ... OMIM:610188
Yellow Fever
Shock, Renal insufficiency, Anuria, Acute pancreatitis, Elevated circulating aspartate aminotrans... ORPHA:99829
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Koolen-De Vries Syndrome
Recurrent urinary tract infections, Small for gestational age, Eczema, Short stature, Aortic root... OMIM:610443
Carpenter Syndrome 1
Hydroureter, Ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis, P... OMIM:201000
Renal And Mullerian Duct Hypoplasia
Anteriorly displaced urethral meatus, Severe postnatal growth retardation, Renal hypoplasia, Hors... OMIM:266810
Pediatric Systemic Lupus Erythematosus
Dark urine, Renal insufficiency, Myositis, Proteinuria, Skin rash, Raynaud phenomenon, Discoid lu... ORPHA:93552
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Urethral obstruction, Renal dysplasia, Renal hypoplasia, Hypertrophy of the urinary bladder OMIM:601389
Endocrine-Cerebroosteodysplasia
Hypospadias, Adrenal hypoplasia, Microphallus, Hyperechogenic kidneys, Agenesis of corpus callosu... OMIM:612651
Verheij Syndrome
Small for gestational age, Short stature, Renal agenesis, Renal hypoplasia, Renal cyst, Growth de... OMIM:615583
Marden-Walker Syndrome
Abnormal penis morphology, Renal dysplasia, Multicystic kidney dysplasia, Hydroureter, Hypospadia... ORPHA:2461
Lassa Fever
Shock, Conjunctivitis, Oliguria ORPHA:99824
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Atrial septal defect, Hyperactivity, Pericardial lymphangiectasia, Ventricular septal defect, Ect... OMIM:235510
Fryns Syndrome
Multicystic kidney dysplasia, Hypospadias, Abnormal aortic arch morphology, Abnormal cardiac sept... ORPHA:2059
Huntington Disease
Oral-pharyngeal dysphagia, Aggressive behavior, Inability to walk, Weight loss, Abnormal circulat... ORPHA:399
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Renal hypoplasia/aplasia, Self-injurious behavior, Hydronephrosis ORPHA:568
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Hypospadias, Heart murmur, Intracranial hemorrhage... ORPHA:163979
Beckwith-Wiedemann Syndrome
Ureteral duplication, Large for gestational age, Cardiomegaly, Vesicoureteral reflux, Nephropathy... ORPHA:116
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension ORPHA:79456
Hereditary Arterial And Articular Multiple Calcification Syndrome
Coronary artery calcification, Arterial occlusion, Abnormal cardiovascular system physiology, Dec... ORPHA:289601
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Flexion contracture of finger, Failure to thrive, Hypospadias, Small for ge... ORPHA:464311
Adams-Oliver Syndrome 6
Splenomegaly, Tricuspid regurgitation, Renal hypoplasia, Portal hypertension OMIM:616589
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hyponatremia, Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1,... ORPHA:293978
X-Linked Dominant Chondrodysplasia Punctata
Severe postnatal growth retardation, Short stature, Hydronephrosis, Erythroderma ORPHA:35173
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Anuria, Thoracic aortic aneurysm, Peritonitis, Megacystis, Pyelonephritis, Bidirectional shunt, E... OMIM:619351
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Renal hypoplasia, Short stature ORPHA:1307
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating cortisol level, Micropenis, Decreased circulating renin level, Hyponatremia... OMIM:201750
Inhalational Anthrax
Internal hemorrhage, Hypotension ORPHA:247257
Congenital Myopathy 17
Hydronephrosis, Ureteropelvic junction obstruction, Failure to thrive in infancy, Renal hypoplasia OMIM:618975
12Q14 Microdeletion Syndrome
Diabetes mellitus, Short stature, Ectopic kidney, Renal hypoplasia, Horseshoe kidney, Intrauterin... ORPHA:94063
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Recurrent urinary tract infections, Perianal abscess, Splenomegaly, Urachus fistula... OMIM:612541
Prolactinoma
Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating growth hormone concentra... ORPHA:2965
Mungan Syndrome
Vesicoureteral reflux, Tricuspid regurgitation, Renal hypoplasia, Pulmonic stenosis OMIM:611376
Schimke Immuno-Osseous Dysplasia
Proteinuria, Transient ischemic attack, Minimal change glomerulonephritis, Congestive heart failu... ORPHA:1830
Hyperparathyroidism, Transient Neonatal
Enlarged kidney, Hyperparathyroidism, Unilateral renal agenesis OMIM:618188
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Focal segmental glomerulosc... OMIM:254900
Meacham Syndrome
Horseshoe kidney, Coarctation of aorta, Right aortic arch, Stillbirth, Neonatal death, Enlarged k... OMIM:608978
15Q Overgrowth Syndrome
Tricuspid regurgitation, Ureterovesical stenosis, Abnormal renal morphology, Horseshoe kidney, Mi... ORPHA:314585
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Atrioventricular c... OMIM:265380
Autosomal Recessive Spastic Paraplegia Type 20
Hydronephrosis, Dysuria, Dysphagia ORPHA:101000
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Short stature, Pulmonary artery stenosis, Abnormality of the anterior pituitary, Renal hypoplasia... ORPHA:75389
Ventriculomegaly With Cystic Kidney Disease
Renal insufficiency, Ventricular septal defect, Tubular luminal dilatation, Renal corticomedullar... OMIM:219730
Genitopatellar Syndrome
Multicystic kidney dysplasia, Agenesis of corpus callosum, Hydronephrosis, Short stature ORPHA:85201
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Renal hypoplasia, Renal cyst, Coarctation of aorta, Microphallus, Comp... OMIM:618454
Musculocontractural Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Abnormal mesentery morphology, Functional abnormality of the bla... ORPHA:2953
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Ureteral duplication, Failure to thrive, Ataxia, Stage 5 chronic kidney disease, Renal cyst, Hype... OMIM:266920
Mosaic Trisomy 8
Vesicoureteral reflux, Agenesis of corpus callosum, Hydronephrosis, Short stature ORPHA:96061
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Abnormal repetitive mannerisms, Heart murmur, Vesicoureteral reflux, Micropenis, Pelvic kidney, P... OMIM:618653
Acrocephalopolydactylous Dysplasia
Hepatomegaly, Cystic renal dysplasia, Enlarged kidney OMIM:200995
Gabriele-De Vries Syndrome
Aortopulmonary collateral arteries, Attention deficit hyperactivity disorder, Ureteropelvic junct... OMIM:617557
Alagille Syndrome 1
Multiple small medullary renal cysts, Atrial septal defect, Vesicoureteral reflux, Renal hypoplas... OMIM:118450
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Cenani-Lenz Syndactyly Syndrome
Renal agenesis, Renal hypoplasia, Pulmonic stenosis, Ectopic kidney OMIM:212780
Cockayne Syndrome Type 3
Hepatomegaly, Neurogenic bladder, Renal insufficiency, Hydroureter, Mild postnatal growth retarda... ORPHA:90324
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Ureteral triplication, Hydronephrosis, Mitral valve prolapse OMIM:104350
Stromme Syndrome
Stillbirth, Bilateral renal hypoplasia, Agenesis of corpus callosum, Hydronephrosis OMIM:243605
Cerebellar-Facial-Dental Syndrome
Infancy onset short-trunk short stature, Severe short stature, Ascending tubular aorta aneurysm, ... ORPHA:444072
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Renal insufficiency, Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Absence of renal ... OMIM:617641
Fanconi Anemia, Complementation Group W
Growth delay, Intrauterine growth retardation, Renal hypoplasia, Decreased response to growth hor... OMIM:617784
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Ureteral duplication, Ureteral hypoplasia, Bladder trabeculation, Large for gestational age, Hydr... OMIM:614080
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Hypospadias, Aggressive behavior, Male urethral meatus stenosis, Atria... ORPHA:464738
Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Hypospadias, Hypocalcemia, Interrupted aortic arch... OMIM:300712
Congenital Disorder Of Glycosylation, Type Iit
Decreased serum creatinine, Decreased HDL cholesterol concentration, Hypotriglyceridemia, Urinary... OMIM:618885
Joubert Syndrome 2
Renal insufficiency, Failure to thrive, Renal cyst, Nephronophthisis OMIM:608091
Duane-Radial Ray Syndrome
Renal malrotation, Atrial septal defect, Renal agenesis, Ventricular septal defect, Renal hypopla... OMIM:607323
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology... ORPHA:453499
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Panhypopituitarism, Hypogonadism, H... ORPHA:91351
Degcags Syndrome
Tachycardia, Recurrent urinary tract infections, Hypospadias, Small for gestational age, Bilatera... OMIM:619488
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Failure to thrive, Multiple joint contractures, Hypospadias, Small for gest... ORPHA:464306
Tuberous Sclerosis 2
Wolff-Parkinson-White syndrome, Absence of renal corticomedullary differentiation, Precocious pub... OMIM:613254
Matthew-Wood Syndrome
Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Intrauterine growth retardation, Failu... ORPHA:2470
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Abnormal left ventricular function, Aminoaciduria, Hypocalcemi... OMIM:619991
Chromosome 17Q12 Deletion Syndrome
Elevated hepatic transaminase, Hypoplasia of the bladder, Recurrent urinary tract infections, Mul... OMIM:614527
Pfeiffer Syndrome Type 3
Vesicoureteral reflux, Hydronephrosis, Horseshoe kidney ORPHA:93260
Thakker-Donnai Syndrome
Ventricular septal defect, Transposition of the great arteries, Tetralogy of Fallot, Hydronephrosis ORPHA:1780
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... OMIM:618620
Baraitser-Winter Cerebrofrontofacial Syndrome
Hydroureter, Transient ischemic attack, Abnormality of the upper urinary tract, Growth delay, Fai... ORPHA:2995
Takenouchi-Kosaki Syndrome
Hypospadias, Unilateral renal agenesis, Abnormal cardiac septum morphology, Pulmonic stenosis, Hy... OMIM:616737
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Bicuspid aortic valve, Decreased serum creatinine, Atrial septal defect, Hypohomocysteinemia, Hyp... OMIM:617744
Teebi-Shaltout Syndrome
Ureteral stenosis, Ventricular septal defect, Horseshoe kidney, Aortic valve stenosis, Hydronephr... OMIM:272950
Intellectual Developmental Disorder, Autosomal Dominant 53
Micropenis, Ventricular septal defect, Hydronephrosis OMIM:617798
7Q11.23 Microduplication Syndrome
Collectionism, Hyperactivity, Hypospadias, Ventricular septal defect, Unilateral renal agenesis, ... ORPHA:96121
Cranioectodermal Dysplasia 3
Rhizomelia, Short stature, Stage 5 chronic kidney disease, Nephronophthisis, Peripheral pulmonary... OMIM:614099
Neuroendocrine Neoplasm Of Appendix
Tricuspid stenosis, Anorexia, Heart murmur, Adrenocorticotropic hormone excess, Palpitations, Hyp... ORPHA:100079
Pelvis-Shoulder Dysplasia
Neonatal short-trunk short stature, Short stature, Hydronephrosis, Mesomelic/rhizomelic limb shor... ORPHA:2839
Osteopetrosis With Renal Tubular Acidosis
Hepatomegaly, Short stature, Elevated circulating creatine kinase concentration, Nephrolithiasis,... ORPHA:2785
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Elevated circulating creatinine concentration, Cholestasis, Perimembranous ventricu... OMIM:608104
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Hypertension, Aortic root aneurysm, Vesic... OMIM:616580
Kabuki Syndrome
Duplicated collecting system, Hypoplasia of penis, Crossed fused renal ectopia, Hypospadias, Shor... ORPHA:2322
Alg9-Cdg
Hypoplasia of the bladder, Hepatomegaly, Tricuspid regurgitation, Rhizomelia, Ureteral hypoplasia... ORPHA:79328
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Vesicoureteral reflux, Abnorma... ORPHA:353281
Meckel Syndrome 12
Ureteral hypoplasia, Renal hypoplasia, Bilateral renal agenesis, Intrauterine growth retardation,... OMIM:616258
Helsmoortel-Van Der Aa Syndrome
Recurrent urinary tract infections, Short stature, Decreased response to growth hormone stimulati... OMIM:615873
Vacterl Association With Hydrocephalus
Stillbirth, Renal hypoplasia OMIM:276950
Acute Radiation Syndrome
Hypotension, Telangiectasia ORPHA:454831
Trisomy 8P
Abnormal atrioventricular connection, Fetal pyelectasis, Abnormal left ventricle morphology, Annu... ORPHA:264450
White-Kernohan Syndrome
Hydroureter, Dysplastic corpus callosum, Obesity, Horseshoe kidney, Recurrent otitis media, Hypot... OMIM:619426
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Elevated circulating alpha-fetoprotein concentration, Hypertrophy of the urinary bla... ORPHA:280633
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Recurrent urinary tract infections, Hypoplasia of penis, Short stature, Abnormality of the kidney... ORPHA:847
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Renal agenesis, Cardiomegaly, Hypoplastic aortic arch, Horseshoe kidney, Coarctatio... OMIM:306955
Hyperphosphatasia-Intellectual Disability Syndrome
Growth delay, Hydronephrosis, Telangiectasia ORPHA:247262
Grange Syndrome
Carotid artery stenosis, Renovascular hypertension, Renal artery stenosis, Decreased body weight,... OMIM:602531
Acute Liver Failure
Gastrointestinal hemorrhage, Shock, Ataxia, Hyperammonemia, Intracranial hemorrhage, Agitation, A... ORPHA:90062
Penile Agenesis
Urethral atresia, male, Hydroureter, Maternal diabetes, Fetal pyelectasis, Bilateral renal hypopl... ORPHA:49
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Short stature, Renal hypoplasia, Aortic valve stenosis, Vesicoureteral reflux, Mitral stenosis OMIM:617660
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Renal agenesis, Hypospadias, Ventricular septal defect, Perimembranous ventricular septal defect,... OMIM:301040
Distal Deletion 12Q
Late onset atopic dermatitis, Diabetes mellitus, Failure to thrive in infancy, Short stature, Mat... ORPHA:96149
Focal Dermal Hypoplasia
Omphalocele, Multicystic kidney dysplasia, Inguinal hernia, Telangiectasia of the skin, Abnormal ... ORPHA:2092
Trisomy 20P
Hypospadias, Abnormality of the kidney, Abnormality of the ureter, Abnormal localization of kidne... ORPHA:261318
Smith-Lemli-Opitz Syndrome
Partial agenesis of the corpus callosum, Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Microp... OMIM:270400
Short Stature, Microcephaly, And Endocrine Dysfunction
Diabetes mellitus, Short stature, Unilateral renal agenesis, Ectopic kidney, Dilated cardiomyopat... OMIM:616541
Pseudohypoaldosteronism, Type Iib
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hypertension, Hyperchloremia, Hyperkalemia OMIM:614495
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Short stature, Adrenal hypoplasia, Unilateral renal agenesis, Elevated 8-dehydrocholesterol, Elev... OMIM:308050
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Postnatal growth retardation, Intrauterine growth retardation, Hydronephrosis ORPHA:254528
Plasminogen Deficiency, Type I
Decreased level of plasminogen, Nephrolithiasis, Conjunctivitis, Periodontitis, Nephritis OMIM:217090
Ogden Syndrome
Maternal diabetes, Cardiomegaly, Ventricular tachycardia, Supraventricular tachycardia, Intrauter... OMIM:300855
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:404
Systemic Mastocytosis With Associated Hematologic Neoplasm
Tachycardia, Syncope, Hypotension, Weight loss ORPHA:98849
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Hydronephrosis, Abnormality of thyroid physiology, Renal dysplasia, Short stature OMIM:300968
Homozygous Familial Hypercholesterolemia
Myocardial infarction, Precocious atherosclerosis, Abnormal left ventricular function, Premature ... ORPHA:391665
Opitz Gbbb Syndrome
Atrial septal defect, Hypospadias, Ventricular septal defect, Abnormal heart morphology, Coarctat... ORPHA:2745
Cerebral Creatine Deficiency Syndrome 2
Decreased serum creatinine, Elevated circulating guanidinoacetic acid concentration, Aggressive b... OMIM:612736
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroidism, Hypertensio... ORPHA:90065
Autoimmune Lymphoproliferative Syndrome, Type Iia
Gastrointestinal hemorrhage, Hepatomegaly, Splenomegaly, Vasculitis, Nephrotic syndrome, Malar ra... OMIM:603909
Fanconi Anemia, Complementation Group F
Short stature, Decreased response to growth hormone stimulation test, Pneumonia, Renal hypoplasia... OMIM:603467
Floating-Harbor Syndrome
Restlessness, Hypospadias, Renal agenesis, Impulsivity, Aggressive behavior, Dilatation of the re... ORPHA:2044
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Renal malrotation, Multicystic kidney dysplasia, Large for gestational age, Nephroblastoma, Bifid... ORPHA:500095
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Renal insufficiency, Proteinuria, Short stature, Conjugated hyperbilirubinemia, Chronic kidney di... OMIM:208500
Hereditary Angioedema Type 1
Hypotension, Dysphagia ORPHA:100050
Autosomal Recessive Hypophosphatemic Rickets
Hyperphosphaturia, Abnormality of renal excretion, Renal hypophosphatemia, Hypocalcemic tetany, S... ORPHA:289176
Orofaciodigital Syndrome Type 1
Renal insufficiency, Multicystic kidney dysplasia, Proteinuria, Hypertension, Chronic otitis medi... ORPHA:2750
Holoprosencephaly 3
Central diabetes insipidus, Hydronephrosis OMIM:142945
Cardiofaciocutaneous Syndrome 1
Short stature, Splenomegaly, Atopic dermatitis, Pulmonic stenosis, Hypertrophic cardiomyopathy, F... OMIM:115150
Eec Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Short stature, Renal hypoplas... ORPHA:1896
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Hypoammonemia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Periodon... ORPHA:534
Koolen-De Vries Syndrome Due To A Point Mutation
Decreased response to growth hormone stimulation test, Fetal pyelectasis, Pineal cyst, Vesicouret... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Fetal pyelectasis, Pineal cyst, Vesicouret... ORPHA:363958
Marchiafava-Bignami Disease
Addictive alcohol use, Urinary incontinence, Aggressive behavior ORPHA:221074
Microcephaly 29, Primary, Autosomal Recessive
Reduced renal corticomedullary differentiation, Hyperechogenic kidneys, Hyperactivity OMIM:620047
Frontometaphyseal Dysplasia 1
Hydroureter, Cor pulmonale, Hydronephrosis, Mitral valve prolapse OMIM:305620
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Recurrent urinary tract infections, Sinusitis, Short stature, Recurr... OMIM:251260
Tetrasomy 9P
Renal dysplasia, Absent gallbladder, Recurrent urinary tract infections, Pericarditis, Juxtaducta... ORPHA:3310
Melnick-Needles Syndrome
Ureteral stenosis, Stillbirth, Recurrent otitis media, Pulmonary arterial hypertension, Failure t... OMIM:309350
Occipital Horn Syndrome
Orthostatic hypotension, Decreased circulating ceruloplasmin concentration, Decreased circulating... OMIM:304150
Cardiofaciocutaneous Syndrome
Short stature, Failure to thrive in infancy, Pulmonic stenosis, Hypertrophic cardiomyopathy, Hydr... ORPHA:1340
Monosomy 22Q13.3
Recurrent skin infections, Obesity, Hydronephrosis, Vesicoureteral reflux, Recurrent pyelonephrit... ORPHA:48652
Campomelic Dysplasia
Short stature, Hydronephrosis ORPHA:140
15q26 overgrowth syndrome
Renal agenesis, Abnormality of the kidney, Horseshoe kidney, Duplication of renal pelvis, Polycys... DECIPHER:81
Raine Syndrome
Hydroureter, Short stature, Hypophosphatemia, Neonatal death, Hydronephrosis OMIM:259775
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Duplicated collecting system, Hepatomegaly, Violent behavior, Ventricular septal defect, Elevated... OMIM:280000
Robinow Syndrome
Decreased serum testosterone concentration, Multicystic kidney dysplasia, Small for gestational a... ORPHA:97360
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Ureteral duplication, Hypoplasia of penis, Multicystic kidney dysplasia, H... ORPHA:373
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... ORPHA:2036
Otopalatodigital Syndrome Type 2
Abnormal heart valve morphology, Hypospadias, Ureteral obstruction, Abnormal cardiac septum morph... ORPHA:90652
Hyperaldosteronism, Familial, Type Iv
Hypertension, Hyperaldosteronism OMIM:617027
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Lymphadenitis, Abnormality of the parathyroid gland, Abnormalit... ORPHA:2552
1P36 Deletion Syndrome
Aortic arch aneurysm, Hypoplasia of penis, Hypospadias, Abnormality of the kidney, Abnormal heart... ORPHA:1606
Digeorge Syndrome
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypocalcemia, Hypot... OMIM:188400
Intellectual Developmental Disorder, Autosomal Dominant 42
Neurogenic bladder, Aggressive behavior, Inability to walk, Phonic tics, Congenital hypothyroidis... OMIM:616973
3Mc Syndrome 1
Conjunctival telangiectasia, Postnatal growth retardation, Growth delay, Hydronephrosis OMIM:257920
Trisomy 18
Short stature, Cachexia, Abnormality of the upper urinary tract, Growth delay, Intrauterine growt... ORPHA:3380
Tarp Syndrome
Intrauterine growth retardation, Failure to thrive, Hydronephrosis, Horseshoe kidney ORPHA:2886
Vater/Vacterl Association
Renal dysplasia, Hypospadias, Renal agenesis, Ectopic kidney, Postnatal growth retardation, Paten... OMIM:192350
Acute Interstitial Pneumonia
Pericardial effusion, Hypertension, Elevated circulating creatinine concentration, Elevated circu... ORPHA:79126
Cutis Laxa, Autosomal Recessive, Type Ic
Accessory spleen, Multiple bladder diverticula, Patent foramen ovale, Hydronephrosis, Peripheral ... OMIM:613177
Jacobsen Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Annular pancreas, Coarctation of aorta, ... ORPHA:2308
Acute Promyelocytic Leukemia
Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Hematuria, Addictive alcohol use ORPHA:520
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Renal dysplasia, Duplicated collecting system, Hydroureter, Renal agenesis, Decreased response to... OMIM:604292
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Medial calcification of large arteries, Functional abnormality of the bladder, Infectious encepha... ORPHA:391487
Cousin Syndrome
Disproportionate short stature, Rhizomelia, Hydronephrosis OMIM:260660
Apert Syndrome
Overriding aorta, Acne, Rhizomelic arm shortening, Chronic otitis media, Agenesis of corpus callo... OMIM:101200
Cornelia De Lange Syndrome 1
Inguinal hernia, Hypospadias, Proteinuria, Congenital diaphragmatic hernia, Ectopic kidney, Hiatu... OMIM:122470
Cerebrofacioarticular Syndrome
Hypospadias, Short stature, Dysplastic corpus callosum, Renal hypoplasia, Absence of pubertal dev... ORPHA:314679
Mckusick-Kaufman Syndrome
Vesicovaginal fistula, Hydroureter, Hydronephrosis, Polycystic kidney dysplasia OMIM:236700
Chime Syndrome
Ventricular septal defect, Abnormality of the kidney, Pulmonary valve atresia, Transposition of t... ORPHA:3474
Sickle Cell Anemia
Pigment gallstones, Abnormality of the spleen, Elevated circulating creatinine concentration, Cho... ORPHA:232
Dubowitz Syndrome
Hypoparathyroidism, Hypospadias, Eczema, Short stature, Postnatal growth retardation, Intrauterin... ORPHA:235
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal pulmonary ... ORPHA:1507
Fryns Syndrome
Ureteral duplication, Hypospadias, Renal agenesis, Large for gestational age, Renal cyst, Stillbi... OMIM:229850
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Vesicoureteral reflux, Patent ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Bicuspid aortic valve, Compulsive behaviors, Atrial septal defect, Vesicoureteral reflux, Patent ... ORPHA:353277
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Urethral atresia, Hydronephrosis OMIM:271520
Robinow Syndrome, Autosomal Recessive 1
Short stature, Nephrolithiasis, Nephrocalcinosis, Right ventricular outlet tract obstruction, Mic... OMIM:268310
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Renal hypoplasia/aplasia, Abnormal renal morphology, Abnormal heart mo... ORPHA:363700
Acute Lung Injury
Shock, Elevated circulating C-reactive protein concentration, Diffuse alveolar hemorrhage, Increa... ORPHA:178320
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Ventricular septal defect, Renal ... ORPHA:818
Ulnar-Mammary Syndrome
Hypoplasia of penis, Short stature, Renal hypoplasia, Obesity, Delayed puberty, Arrhythmia ORPHA:3138
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology... ORPHA:352665
Okamoto Syndrome
Ventricular septal defect, Urinary incontinence, Splenomegaly, Abnormal left ventricle morphology... ORPHA:2729
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome
Ureteral duplication, Aggressive behavior, Duplication of renal pelvis, Inappropriate laughter, S... ORPHA:457212
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Unilateral renal agenesis, Abnormality of the endocrine system, Postnatal growth ret... ORPHA:487796
Schinzel-Giedion Midface Retraction Syndrome
Ureteral stenosis, Hypospadias, Hydroureter, Postnatal growth retardation, Micropenis, Failure to... OMIM:269150
Syndromic Diarrhea
Aortic regurgitation, Hepatomegaly, Small for gestational age, Gastritis, Short stature, Splenome... ORPHA:84064
Oeis Complex
Duplicated collecting system, Hydroureter, Renal agenesis, Epispadias, Vesicovaginal fistula, Mic... OMIM:258040
Cardiac-Urogenital Syndrome
Tachycardia, Penoscrotal hypospadias, Patent urachus, Interrupted aortic arch, Micropenis, Enlarg... OMIM:618280
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Duplicated collecting system, Hydroureter, Renal agenesis, Decreased response to growth hormone s... OMIM:129900
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Urethral stricture, Hypospadias, Urinary incontinence, Renal agenesis, Ventricular septal defect,... OMIM:619522
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Aortic regurgitation, Tricuspid regurgitation, Mitral valve prolapse, Nephrotic syndrome, Mitral ... OMIM:601776
Kabuki Syndrome 1
Crossed fused renal ectopia, Short stature, Premature thelarche, Postnatal growth retardation, Mi... OMIM:147920
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... ORPHA:90695
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Nail-biting, Ventricular septal defect, Aggressive behavior, Hair-pulling, Polyphagia, Self-injur... OMIM:620330
Isolated Osteopoikilosis
Addictive alcohol use, Abnormality of the kidney, Abnormal heart morphology ORPHA:166119
Gabriele-De Vries Syndrome
Small for gestational age, Decreased response to growth hormone stimulation test, Hypothyroidism,... ORPHA:506358
Pseudotrisomy 13 Syndrome
Renal agenesis, Adrenal hypoplasia, Renal hypoplasia, Coarctation of aorta, Micropenis, Agenesis ... OMIM:264480
Hand-Foot-Genital Syndrome
Renal insufficiency, Hypospadias, Micropenis, Pyelonephritis, Chordee, Vesicoureteral reflux, Ure... OMIM:140000
Frontometaphyseal Dysplasia
Hydronephrosis, Urethral stenosis, Ureteral obstruction, Abnormal heart morphology ORPHA:1826
Floating-Harbor Syndrome
Hypospadias, Aggressive behavior, Glandular hypospadias, Coarctation of aorta, Nephrocalcinosis, ... OMIM:136140
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermati... ORPHA:83617
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Atrial septal defect, Bicuspid aortic valve, Ventricular septal defect, Decreased serum iron, Nep... ORPHA:438213
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Hydroureter, Severe short stature, Abnormality of the kidney, Abnormality of the up... ORPHA:2273
Charge Syndrome
Aortic arch aneurysm, Hypogonadotropic hypogonadism, Short stature, Postnatal growth retardation,... ORPHA:138
Nail-Patella Syndrome
Renal insufficiency, Proteinuria, Abnormality of the kidney, Thickened glomerular basement membra... ORPHA:2614
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Wide penis, Vesicoureteral reflux, Dilatat... ORPHA:3455
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Elevated circulating creatine kinase concentration, Micropenis, Age... OMIM:615287
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Failure to thrive in infancy, Recurrent pneumonia, Abnormality of the ... ORPHA:798
Simpson-Golabi-Behmel Syndrome, Type 1
Hepatomegaly, Hypospadias, Splenomegaly, Renal cyst, Duplication of renal pelvis, Cardiomyopathy,... OMIM:312870
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Hydroureter, Severe short stature, Abnormality of the kidney, Abnormality of the upper urinary tr... ORPHA:2636
Autosomal Recessive Cutis Laxa Type 1
Recurrent urinary tract infections, Abnormal cardiac ventricular function, Severe short stature, ... ORPHA:90349
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Splenomegaly, Nephroblastoma, Renal hypoplasia OMIM:612918
Mesomelia-Synostoses Syndrome
Mesomelic short stature, Hydronephrosis OMIM:600383
Rubinstein-Taybi Syndrome 1
Accessory spleen, Hyperactivity, Hypospadias, Ventricular septal defect, Impulsivity, Self-mutila... OMIM:180849
Osteogenesis Imperfecta, Type Vii
Rhizomelia, Absent pulmonary artery, Short stature, Hydronephrosis OMIM:610682
Peters Plus Syndrome
Ureteral duplication, Multicystic kidney dysplasia, Hypospadias, Short stature, Rhizomelia, Renal... ORPHA:709
Hydrolethalus Syndrome 1
Hypospadias, Stillbirth, Adrenal gland dysgenesis, Intrauterine growth retardation, Agenesis of c... OMIM:236680
Fraser Syndrome 2
Renal agenesis, Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Aplasia of the bl... OMIM:617666
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Short stature, Unilateral renal agenesis, Congestive heart failure, Renal hy... OMIM:181270
Arboleda-Tham Syndrome
Recurrent urinary tract infections, Ventricular septal defect, Secundum atrial septal defect, Pul... OMIM:616268
Split Cord Malformation
Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional... ORPHA:573278
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Colitis, Nephritis, Infectious encephalitis, He... ORPHA:73263
Johanson-Blizzard Syndrome
Hepatomegaly, Diabetes mellitus, Hypospadias, Small for gestational age, Portal hypertension, Ure... OMIM:243800
Williams-Beuren Syndrome
Nephrocalcinosis, Early onset of sexual maturation, Vesicoureteral reflux, Micropenis, Pelvic kid... OMIM:194050
Charge Syndrome
Overriding aorta, Renal agenesis, Ventricular septal defect, Pulmonary artery atresia, Secundum a... OMIM:214800
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... ORPHA:95494
Exstrophy-Epispadias Complex
Renal insufficiency, Bladder fistula, Urinary incontinence, Abnormality of the kidney, Epispadias... ORPHA:322
Knobloch Syndrome 1
Duplicated collecting system, Bifid ureter, Hydronephrosis, Renal duplication OMIM:267750
Lacrimoauriculodentodigital Syndrome
Renal hypoplasia, Keratoconjunctivitis, Hydronephrosis, Arthritis, Keratoconjunctivitis sicca, Ve... ORPHA:2363
Plague
Tachycardia, Anorexia, Hematemesis, Unsteady gait, Hypotension, Arrhythmia ORPHA:707
Sotos Syndrome
Ureteral duplication, Renal insufficiency, Atrial septal defect, Hypospadias, Abnormality of the ... ORPHA:821
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Renal hypoplasia, Renal cyst, Disproportionate short... ORPHA:93271
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, M... ORPHA:904
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Unilateral renal agenesis, Postnatal growth retardation, Congestive heart f... ORPHA:90348
Peters-Plus Syndrome
Ureteral duplication, Hypospadias, Rhizomelia, Postnatal growth retardation, Renal hypoplasia, Bi... OMIM:261540
Alpha-Fetoprotein Deficiency
Decreased circulating alpha-fetoprotein concentration OMIM:615969
Campomelic Dysplasia
Hypospadias, Neonatal short-limb short stature, Disproportionate short-limb short stature, Failur... OMIM:114290
Robinow Syndrome, Autosomal Dominant 1
Short stature, Rhizomelia, Right ventricular outlet tract obstruction, Micropenis, Hydronephrosis... OMIM:180700
Doors Syndrome
Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Congenital hypothyroidism... ORPHA:79500
Coffin-Siris Syndrome 1
Hydroureter, Hypospadias, Short stature, Ectopic kidney, Postnatal growth retardation, Partial ag... OMIM:135900
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Short stature, Renal hypoplasia, Abdominal obesity, Hypoplasia of the ovary, Azotemia, Intrauteri... OMIM:619321
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micro... ORPHA:261537
Igg4-Related Pachymeningitis
Sinusitis, Elevated circulating C-reactive protein concentration, Lymphadenitis, Nephritis, Pancr... ORPHA:449427
Genitopatellar Syndrome
Multicystic kidney dysplasia, Ventricular septal defect, Dysphagia, Atrial septal defect, Micrope... OMIM:606170
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Renal dysplasia, Short stature, Abnormal circulating thyroid hormone concentration, Cardiomyopath... ORPHA:480880
Focal Dermal Hypoplasia
Ureteral duplication, Short stature, Horseshoe kidney, Telangiectasia, Bifid ureter, Agenesis of ... OMIM:305600
Viss Syndrome
Epidural hemorrhage, Ventricular septal defect, Abnormal branching pattern of the aortic arch, Co... OMIM:619472
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micro... ORPHA:261552
Mowat-Wilson Syndrome
Bicuspid aortic valve, Urinary incontinence, Asplenia, Vesicoureteral reflux, Webbed penis, Micro... ORPHA:2152
Townes-Brocks Syndrome
Hypoplasia of penis, Renal insufficiency, Hypospadias, Abnormality of the kidney, Urethral valve,... ORPHA:857
Otopalatodigital Syndrome, Type Ii
Hypospadias, Short stature, Postnatal growth retardation, Stillbirth, Dilatation of the sinus of ... OMIM:304120
Heterotaxy, Visceral, 5, Autosomal
Atrial reentry tachycardia, Ureteral duplication, Ureteral stenosis, Renal hypoplasia, Coarctatio... OMIM:270100
Cystinosis, Adult Nonnephropathic
Elevated circulating creatinine concentration OMIM:219750
Secondary Intestinal Lymphangiectasia
Right ventricular failure, Reduced circulating transferrin concentration, Intestinal bleeding, Hy... ORPHA:90363
Herpes Simplex Virus Encephalitis
Hyponatremia, Addictive alcohol use, Elevated circulating C-reactive protein concentration ORPHA:1930
Secondary Non-Traumatic Avascular Necrosis
Addictive alcohol use ORPHA:399180

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Agt

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Agt.

There are 4 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Angiotensin type 2 receptor antagonism as a new target to manage gout. Inflammopharmacology (September 2022) Agtr2tm1a(EUCOMM)Wtsi 36173505
AT2 activation does not influence brain damage in the early phase after experimental traumatic brain injury in male mice. Scientific reports (August 2022) Agtr2tm1a(EUCOMM)Wtsi PMC9395341
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis. Nature communications (August 2019) Agtr2tm1a(EUCOMM)Wtsi PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss. PLoS biology (April 2019) Agtr2tm1a(EUCOMM)Wtsi Agtr2tm1a(EUCOMM)Wtsi PMC6459510

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Agtem1(IMPC)H Intra-exon deletion Mice
Agttm2a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Agttm2e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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